Greco F, Mauceri L, Finocchiaro M, Fiumara A, Sorge G
Divisione di Neurologia Pediatrica, Università degli Studi di Catania, Italia.
Pediatr Med Chir. 1998 Mar-Apr;20(2):149-52.
Melnick-Needles osteodisplasty is a X-linked dominant syndrome characterized by generalized bone dysplasia and abnormal facies. The Authors report on a 13 year old girl affected by severe valgus. At clinical examination the patient showed exophthalmos, full cheeks and micrognathia. Radiological examination revealed sclerosis of the skull base and mastoids, bowed radius and ulna (S-shaped), coxa valga and abnormal vertebral.
梅尼克-尼德尔斯骨发育异常是一种X连锁显性综合征,其特征为全身性骨发育不良和面容异常。作者报告了一名13岁患有严重外翻的女孩。临床检查时,该患者表现为眼球突出、脸颊丰满和小颌畸形。放射学检查显示颅底和乳突硬化、桡骨和尺骨弯曲(S形)、髋外翻和椎体异常。